title: Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia.
authors.affiliation: Unite de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, Hôpital des Enfants Malades, Paris, France.
authors.forename: P
authors.initials: P
authors.lastname: Calvas
authors.forename: B
authors.initials: B
authors.lastname: Ségues
authors.forename: J M
authors.initials: JM
authors.lastname: Rozet
authors.forename: D
authors.initials: D
authors.lastname: Rabier
authors.forename: J P
authors.initials: JP
authors.lastname: Bonnefond
authors.forename: A
authors.initials: A
authors.lastname: Munnich
mesh_terms: D017668:Age of Onset; D019943:Amino Acid Substitution; D000641:Ammonia / Q000097:blood*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007438:Introns / Q000235:genetics; D008297:Male; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D017354:Point Mutation; D017384:Sequence Deletion
chemical_list: D000641:Ammonia; D009954:Ornithine Carbamoyltransferase